For the clinician, there are many books on the market related to genetics of varying scope.
First, there are those that cover basic genetic concepts, for example our own Thompson & Thompson Genetics in Medicine. These fundamental texts emphasize the basics, such as principles of human genetics and patterns of inheritance. This level of information helps medical students, residents, and physicians learn (or brush-up on) the nuts and bolts of genetics. They do not offer practical help in diagnosing or managing genetic disorders.
Next there are books that focus on specific genetic disorders or syndromes once a diagnosis has been made, like the extremely popular Jones: Smith's Recognizable Patterns of Human Malformation. While this type of content can be extremely helpful to confirm a diagnosis or as a reference point before seeing a patient, many times you have to already know what disease you are looking for before finding the appropriate information.
Finally, at the top tier you have comprehensive and expensive specialty texts such as Emery & Rimoin's Principles and Practice of Medical Genetics. The leading reference in its field, this 3-volume work can be found in the office of practically every genetics specialist in the United States-but yet it doesn't serve as a realistic, rapid reference for diagnosis and management.
The aforementioned texts are excellent in their own right. However none are truly designed to help recognize a presenting symptom of genetic disease and aid in differential diagnosis. Hoyme et al: Signs and Symptoms of Genetic Disease will discuss practical diagnosis and management of common human genetic disorders based on presenting signs and/or symptoms. Each chapter will examine a presenting sign or symptom of genetic disease, for example cleft palate, and will lead the reader through a step-by-step approach to differential diagnosis.
Hoyme et al will be a contributed text. Chapters will be solicited from prominent clinical geneticists with expertise in disorders associated with each specified chief complaint. The editors will devise an appropriate chapter template to assure contributor accuracy, brevity, and common style. Prominent flow charts will graphically depict the diagnostic approach. Recommended laboratory and/or imaging studies will be concisely presented. Health supervision and management of the most common conditions associated with each presenting sign or symptom will be suggested. Each chapter will include a few important references, pertinent Internet sites, and patient/family support information. Appendices will incorporate norms for growth and anthropometric measurements and necessary tools for diagnosing genetic conditions. Photographs and/or imaging studies of patients with common genetic disorders will be plentiful. Color will be incorporated to allow for full color images and functional flow chart diagrams. A CD-ROM image bank will be bound into the book.
